MFS11_HUMAN
ID MFS11_HUMAN Reviewed; 449 AA.
AC O43934; O43442; Q9NXI5;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 02-OCT-2007, sequence version 2.
DT 03-AUG-2022, entry version 137.
DE RecName: Full=UNC93-like protein MFSD11;
DE AltName: Full=Major facilitator superfamily domain-containing protein 11;
DE AltName: Full=Protein ET;
GN Name=MFSD11; Synonyms=ET;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), AND VARIANT PHE-428.
RX PubMed=9358160; DOI=10.1093/nar/25.22.4513;
RA Sureau A., Soret J., Guyon C., Gaillard C., Dumon S., Keller M.,
RA Crisanti P., Perbal B.;
RT "Characterization of multiple alternative RNAs resulting from antisense
RT transcription of the PR264/SC35 splicing factor gene.";
RL Nucleic Acids Res. 25:4513-4522(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Colon mucosa;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain, and Cervix;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP VARIANT ALA-48.
RX PubMed=28940097; DOI=10.1007/s00439-017-1843-2;
RA Anazi S., Maddirevula S., Salpietro V., Asi Y.T., Alsahli S., Alhashem A.,
RA Shamseldin H.E., AlZahrani F., Patel N., Ibrahim N., Abdulwahab F.M.,
RA Hashem M., Alhashmi N., Al Murshedi F., Al Kindy A., Alshaer A.,
RA Rumayyan A., Al Tala S., Kurdi W., Alsaman A., Alasmari A., Banu S.,
RA Sultan T., Saleh M.M., Alkuraya H., Salih M.A., Aldhalaan H., Ben-Omran T.,
RA Al Musafri F., Ali R., Suleiman J., Tabarki B., El-Hattab A.W., Bupp C.,
RA Alfadhel M., Al Tassan N., Monies D., Arold S.T., Abouelhoda M.,
RA Lashley T., Houlden H., Faqeih E., Alkuraya F.S.;
RT "Expanding the genetic heterogeneity of intellectual disability.";
RL Hum. Genet. 136:1419-1429(2017).
RN [6]
RP ERRATUM OF PUBMED:28940097.
RX PubMed=29288388; DOI=10.1007/s00439-017-1859-7;
RA Anazi S., Maddirevula S., Salpietro V., Asi Y.T., Alsahli S., Alhashem A.,
RA Shamseldin H.E., AlZahrani F., Patel N., Ibrahim N., Abdulwahab F.M.,
RA Hashem M., Alhashmi N., Al Murshedi F., Al Kindy A., Alshaer A.,
RA Rumayyan A., Al Tala S., Kurdi W., Alsaman A., Alasmari A., Banu S.,
RA Sultan T., Saleh M.M., Alkuraya H., Salih M.A., Aldhalaan H., Ben-Omran T.,
RA Al Musafri F., Ali R., Suleiman J., Tabarki B., El-Hattab A.W., Bupp C.,
RA Alfadhel M., Al Tassan N., Monies D., Arold S.T., Abouelhoda M.,
RA Lashley T., Houlden H., Faqeih E., Alkuraya F.S.;
RT "Correction to: Expanding the genetic heterogeneity of intellectual
RT disability.";
RL Hum. Genet. 137:105-109(2018).
CC -!- INTERACTION:
CC O43934; Q14802-3: FXYD3; NbExp=3; IntAct=EBI-17633886, EBI-12175685;
CC O43934; P48165: GJA8; NbExp=3; IntAct=EBI-17633886, EBI-17458373;
CC O43934; O75712: GJB3; NbExp=3; IntAct=EBI-17633886, EBI-3908586;
CC O43934; Q6UX15-2: LAYN; NbExp=3; IntAct=EBI-17633886, EBI-19944128;
CC O43934; Q96FE7: PIK3IP1; NbExp=3; IntAct=EBI-17633886, EBI-10285708;
CC O43934; P15151: PVR; NbExp=3; IntAct=EBI-17633886, EBI-3919694;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O43934-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O43934-2; Sequence=VSP_028187;
CC -!- SIMILARITY: Belongs to the unc-93 family. {ECO:0000305}.
CC -!- CAUTION: Despite its name, it is related to the unc-93 family and not
CC to the major facilitator superfamily. {ECO:0000305}.
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DR EMBL; AF015184; AAB92495.1; -; mRNA.
DR EMBL; AF015185; AAB92496.1; -; mRNA.
DR EMBL; AF015186; AAB92497.1; -; mRNA.
DR EMBL; AK000233; BAA91025.1; -; mRNA.
DR EMBL; CH471099; EAW89449.1; -; Genomic_DNA.
DR EMBL; CH471099; EAW89452.1; -; Genomic_DNA.
DR EMBL; BC002753; AAH02753.1; -; mRNA.
DR EMBL; BC062563; AAH62563.1; -; mRNA.
DR CCDS; CCDS11750.1; -. [O43934-1]
DR CCDS; CCDS56045.1; -. [O43934-2]
DR RefSeq; NP_001229461.1; NM_001242532.1. [O43934-1]
DR RefSeq; NP_001229462.1; NM_001242533.1. [O43934-1]
DR RefSeq; NP_001229463.1; NM_001242534.1. [O43934-1]
DR RefSeq; NP_001229464.1; NM_001242535.1. [O43934-1]
DR RefSeq; NP_001229465.1; NM_001242536.1. [O43934-2]
DR RefSeq; NP_001229466.1; NM_001242537.1. [O43934-2]
DR RefSeq; NP_077287.1; NM_024311.3. [O43934-1]
DR RefSeq; XP_016880555.1; XM_017025066.1.
DR RefSeq; XP_016880556.1; XM_017025067.1.
DR AlphaFoldDB; O43934; -.
DR SMR; O43934; -.
DR BioGRID; 122575; 22.
DR IntAct; O43934; 9.
DR STRING; 9606.ENSP00000464932; -.
DR GlyGen; O43934; 1 site.
DR iPTMnet; O43934; -.
DR PhosphoSitePlus; O43934; -.
DR BioMuta; MFSD11; -.
DR jPOST; O43934; -.
DR MassIVE; O43934; -.
DR PaxDb; O43934; -.
DR PeptideAtlas; O43934; -.
DR PRIDE; O43934; -.
DR ProteomicsDB; 49244; -. [O43934-1]
DR ProteomicsDB; 49245; -. [O43934-2]
DR Antibodypedia; 19710; 53 antibodies from 13 providers.
DR DNASU; 79157; -.
DR Ensembl; ENST00000336509.8; ENSP00000337240.3; ENSG00000092931.12. [O43934-1]
DR Ensembl; ENST00000355954.7; ENSP00000348225.3; ENSG00000092931.12. [O43934-2]
DR Ensembl; ENST00000586622.5; ENSP00000466613.1; ENSG00000092931.12. [O43934-1]
DR Ensembl; ENST00000588460.6; ENSP00000464932.1; ENSG00000092931.12. [O43934-1]
DR Ensembl; ENST00000590514.5; ENSP00000468309.1; ENSG00000092931.12. [O43934-1]
DR Ensembl; ENST00000593181.5; ENSP00000466782.1; ENSG00000092931.12. [O43934-2]
DR Ensembl; ENST00000621483.4; ENSP00000485005.1; ENSG00000092931.12. [O43934-1]
DR Ensembl; ENST00000685175.1; ENSP00000508960.1; ENSG00000092931.12. [O43934-1]
DR GeneID; 79157; -.
DR KEGG; hsa:79157; -.
DR MANE-Select; ENST00000685175.1; ENSP00000508960.1; NM_001242532.5; NP_001229461.1.
DR UCSC; uc002jta.3; human. [O43934-1]
DR CTD; 79157; -.
DR DisGeNET; 79157; -.
DR GeneCards; MFSD11; -.
DR HGNC; HGNC:25458; MFSD11.
DR HPA; ENSG00000092931; Low tissue specificity.
DR neXtProt; NX_O43934; -.
DR OpenTargets; ENSG00000092931; -.
DR PharmGKB; PA162395841; -.
DR VEuPathDB; HostDB:ENSG00000092931; -.
DR eggNOG; KOG3098; Eukaryota.
DR GeneTree; ENSGT00390000012918; -.
DR HOGENOM; CLU_025356_2_0_1; -.
DR InParanoid; O43934; -.
DR OMA; CIGAVNR; -.
DR OrthoDB; 663893at2759; -.
DR PhylomeDB; O43934; -.
DR PathwayCommons; O43934; -.
DR SignaLink; O43934; -.
DR BioGRID-ORCS; 79157; 22 hits in 1080 CRISPR screens.
DR ChiTaRS; MFSD11; human.
DR GenomeRNAi; 79157; -.
DR Pharos; O43934; Tdark.
DR PRO; PR:O43934; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; O43934; protein.
DR Bgee; ENSG00000092931; Expressed in buccal mucosa cell and 166 other tissues.
DR ExpressionAtlas; O43934; baseline and differential.
DR Genevisible; O43934; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR Gene3D; 1.20.1250.20; -; 2.
DR InterPro; IPR010291; Ion_channel_UNC-93.
DR InterPro; IPR036259; MFS_trans_sf.
DR Pfam; PF05978; UNC-93; 1.
DR SUPFAM; SSF103473; SSF103473; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Glycoprotein; Membrane; Phosphoprotein;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..449
FT /note="UNC93-like protein MFSD11"
FT /id="PRO_0000305019"
FT TRANSMEM 8..28
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 53..73
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 74..94
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 96..116
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 138..158
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 170..190
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 239..259
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 277..297
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 309..329
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 359..379
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 385..405
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 410..430
FT /note="Helical"
FT /evidence="ECO:0000255"
FT MOD_RES 204
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BJ51"
FT CARBOHYD 40
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 114..165
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:9358160"
FT /id="VSP_028187"
FT VARIANT 48
FT /note="G -> A (found in a patient with intellectual
FT disability; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:28940097"
FT /id="VAR_084653"
FT VARIANT 428
FT /note="S -> F (in dbSNP:rs3198672)"
FT /evidence="ECO:0000269|PubMed:9358160"
FT /id="VAR_035151"
SQ SEQUENCE 449 AA; 49202 MW; B45219CA5894FCDC CRC64;
MSPESKKLFN IIILGVAFMF MFTAFQTCGN VAQTVIRSLN RTDFHGSGYT SMAIIYGVFS
ASNLITPSVV AIVGPQLSMF ASGLFYSMYI AVFIQPFPWS FYTASVFIGI AAAVLWTAQG
NCLTINSDEH SIGRNSGIFW ALLQSSLFFG NLYIYFAWQG KTQISESDRR TVFIALTVIS
LVGTVLFFLI RKPDSENVLG EDESSDDQDM EVNESAQNNL TKAVDAFKKS FKLCVTKEML
LLSITTAYTG LELTFFSGVY GTCIGATNKF GAEEKSLIGL SGIFIGIGEI LGGSLFGLLS
KNNRFGRNPV VLLGILVHFI AFYLIFLNMP GDAPIAPVKG TDSSAYIKSS KEVAILCSFL
LGLGDSCFNT QLLSILGFLY SEDSAPAFAI FKFVQSICAA VAFFYSNYLL LHWQLLVMVI
FGFFGTISFF TVEWEAAAFV ARGSDYRSI
